Haplogroup I is a descendant (subclade) of haplogroup N1e'I (Behar 2012b) and sibling of haplogroup N1e (Behar 2012b). It is believed to have arisen somewhere in West Asia between 17,263 and 24,451 years before present (Behar 2012b). It has been suggested that its origin may be in Iran or more generally the Near East (Terreros 2011).
It is noteworthy that, with the exception of its northern neighbor Azerbaijan, Iran is the only population in which haplogroup I exhibits polymorphic levels. Also, a contour plot based on the regional phylogeographic distribution of the I haplogroup exhibits frequency clines consistent with an Iranian cradle... Moreover, when compared with other populations in the region, those from the Levant (Iraq, Syria and Palestine) and the Arabian Peninsula (Oman and UAE) exhibit significantly lower proportions of I individuals... It should be noted that this haplogroup has been detected in European groups (Krk, a tiny island off the coast of Croatia (11.3%), and Lemko, an isolate from the Carpathian Highlands (11.3%)) at comparable frequencies to those observed in the North Iranian population. However, the higher frequencies of the haplogroup within Europe are found in geographical isolates and are likely the result of founder effects and/or drift... it is plausible that the high levels of haplogroup I present in Iran may be the result of a localized enrichment through the action of genetic drift or may signal geographical proximity to the location of origin.
Haplogroup I ... dates to ∼25 ka ago and is overall most frequent in Europe..., but the facts that it has a frequency peak in the Gulf region and that its highest diversity values are in the Gulf, Anatolia, and southeast Europe suggest that its origin is most likely in the Near East and/or Arabia...
Outside of Europe, the highest frequencies of mitochondrial haplogroup I observed so far appear in the Cushitic-speaking El Molo (23%) and Rendille (>17%) in northern Kenya (Castrì 2008). The clade is also found at comparable frequencies among the Socotri (~22%).[1]
Haplogroup I is present across West Asia and Central Asia, and is also found at trace frequencies in South Asia. Its highest frequency area is perhaps in northern Iran (9.7%). Terreros 2011 notes that it also has high diversity there and reiterates past studies that have suggested that this may be its place of origin. Found in Svan population from Georgia(Caucasus) I* 4.2%."Sequence polymorphisms of the mtDNA control region in a human isolate: the Georgians from Swanetia."Alfonso-Sánchez MA1, Martínez-Bouzas C, Castro A, Peña JA, Fernández-Fernández I, Herrera RJ, de Pancorbo MM.[citation needed] The table below shows some of the populations where it has been detected.
In Western Europe, haplogroup I is most common in Northwestern Europe (Norway,[citation needed] the Isle of Skye, and the British Isles). The frequency in these areas is between 2 and 5 percent. Its highest frequency in Brittany, France where it is over 9 percent of the population in Finistere. It is uncommon and sometimes absent in other parts of Western Europe (Iberia, South-West France, and parts of Italy).
In Eastern Europe, the frequency of haplogroup I is generally lower than in Western Europe (1 to 3 percent), but its frequency is more consistent between populations with fewer places of extreme highs or lows. There are two notable exceptions. Nikitin 2009 found that Lemkos (a sub- or co-ethnic group of Rusyns) in the Carpathian mountains have the "highest frequency of haplogroup I (11.3%) in Europe, identical to that of the population of Krk Island (Croatia) in the Adriatic Sea".[Footnote 1][Footnote 2]
Haplogroup I has so far been absent from ancient European samples found in Paleolithic and Mesolithic grave sites. One early example has been found in Neolithic Spain (c. 5000 cal BC in Paternanbidea), but its subclade was not determined. Haplogroup I displays a strong connection with the Indo-European migrations; especially its I1, I1a1 and I3a subclades, which have been found in Poltavka and Srubnaya cultures in Russia (Mathieson 2015), among ancient Scythians (Der Sarkissian 2011), and in Corded Ware and Unetice Culture burials in Saxony (Brandt 2013). Haplogroup I (with undetermined subclades) has also been noted at significant frequencies in more recent historic grave sites (Melchior 2008 and Hofreiter 2010).
In 2013, Nature announced the publication of the first genetic study utilizing next-generation sequencing to ascertain the ancestral lineage of an Ancient Egyptian individual. The research was led by Carsten Pusch of the University of Tübingen in Germany and Rabab Khairat, who released their findings in the Journal of Applied Genetics. DNA was extracted from the heads of five Egyptian mummies that were housed at the institution. All the specimens were dated to between 806 BC and 124 AD, a timeframe corresponding with the Late Dynastic and Ptolemaic periods. The researchers observed that one of the mummified individuals likely belonged to the I2 subclade.[2]
Haplogroup I5 has also been observed among specimens at the mainland cemetery in Kulubnarti, Sudan, which date from the Early Christian period (AD 550-800).[3]
We have previously observed a high frequency of Hg I's among Iron Age villagers (Bøgebjerggård) and individuals from the early Christian cemetery, Kongemarken [16], [17]. This trend was also found for the additional sites reported here, Simonsborg, Galgedil and Riisby. The overall frequency of Hg I among the individuals from the Iron Age to the Medieval Age is 13% (7/53) compared to 2.5% for modern Danes [35]. The higher frequencies of Hg I can not be ascribed to maternal kinship, since only two individuals share the same common motif (K2 and K7 at Kongemarken). Except for Skovgaarde (no Hg I's observed) frequencies range between 9% and 29% and there seems to be no trend in relation to time. No Hg I's were observed at the Neolithic Damsbo and the Bronze Age site Bredtoftegård, where all three individuals harboured Hg U4 or Hg U5a (Table 1).
The frequency of haplogroup I may have undergone a reduction in Europe following the Middle Ages. An overall frequency of 13% was found in ancient Danish samples from the Iron Age to the Medieval Age (including Vikings) from Denmark and Scandinavia compared to only 2.5% in modern samples. As haplogroup I is not observed in any ancient Italian, Spanish [contradicted by the above, "early examples have been found in Neolithic Spain (c. 5000 cal BC in Paternanbidea)"], British, central European populations, early central European farmers and Neolithic samples, according to the authors "Haplogroup I could therefore have been an ancient Southern Scandinavian type “diluted” by later immigration events" (Hofreiter 2010).
Subclades
Phylogenetic tree of haplogroups I (left) and W (right). Kya in the left scale bar stands for thousand years ago.
Tree
This phylogenetic tree of haplogroup I subclades with time estimates is based on the paper (van Oven 2008) harv error: no target: CITEREFvan_Oven2008 (help) and subsequent published research (Behar 2012b).
^Nikitin 2009: 6/53 in Lemkos "Lemkos shared the highest frequency of haplogroup I ever reported and the highest frequency of haplogroup M* in the region."
Belyaeva, Olga; Bermisheva, Marina; Khrunin, Andrey; Slominsky, Petr; Bebyakova, Natalia; Khusnutdinova, E. K. (Elza Kamilevna); Mikulich, Aleksei Ignatevich; Limborskaia, S. A. (Svetlana Andreevna) (2003). "Mitochondrial DNA variations in Russian and Belorussian populations". Human Biology. 75 (5): 647–60. doi:10.1353/hub.2003.0069. PMID14763602.
Boattini, Alessio; Castrì, Loredana; Sarno, Stefania; Useli, Antonella; Cioffi, Manuela; Sazzini, Marco; Garagnani, Paolo; De Fanti, Sara; Pettener, Davide; Luiselli, Donata (2013). "MtDNA variation in East Africa unravels the history of afro-asiatic groups". American Journal of Physical Anthropology. 150 (3): n/a. doi:10.1002/ajpa.22212.
Bosch, E.; Calafell, F.; Gonzalez-Neira, A.; Flaiz, C.; Mateu, E.; Scheil, H.-G.; Huckenbeck, W.; Efremovska, L.; et al. (2006). "Paternal and maternal lineages in the Balkans show a homogeneous landscape over linguistic barriers, except for the isolated Aromuns". Annals of Human Genetics. 70 (4): 459–87. doi:10.1111/j.1469-1809.2005.00251.x. PMID16759179.
Brandstatter, Anita; Peterson, Christine T.; Irwin, Jodi A.; Mpoke, Solomon; Koech, Davy K.; Parson, Walther; Parsons, Thomas J. (2004). "Mitochondrial DNA control region sequences from Nairobi (Kenya): Inferring phylogenetic parameters for the establishment of a forensic database". International Journal of Legal Medicine. 118 (5): 294–306. doi:10.1007/s00414-004-0466-z. PMID15248073.
Castrì, Loredana; Garagnani, P; Useli, A; Pettener, D; Luiselli, D (2008). "Kenyan crossroads: migration and gene flow in six ethnic groups from Eastern Africa". Journal of Anthropological Sciences. 86: 189–192. PMID19934476.
Castrì, Loredana; Tofanelli, Sergio; Garagnani, Paolo; Bini, Carla; Fosella, Xenia; Pelotti, Susi; Paoli, Giorgio; Pettener, Davide; Luiselli, Donata (2009). "MtDNA variability in two Bantu-speaking populations (Shona and Hutu) from Eastern Africa: Implications for peopling and migration patterns in sub-Saharan Africa". American Journal of Physical Anthropology. 140 (2): 302–11. doi:10.1002/ajpa.21070. PMID19425093.
Costa, MD; Cherni, L; Fernandes, V; Freitas, F; Ammar El Gaaied, AB; Pereira, L (2009). "Data from complete mtDNA sequencing of Tunisian centenarians: Testing haplogroup association and the "golden mean" to longevity". Mechanisms of ageing and development. 130 (4): 222–6. doi:10.1016/j.mad.2008.12.001. PMID19133286.
Cvjetan, S; Tolk, HV; Lauc, LB; Colak, I; Dordević, D; Efremovska, L; Janićijević, B; Kvesić, A; et al. (2004). "Frequencies of mtDNA haplogroups in southeastern Europe--Croatians, Bosnians and Herzegovinians, Serbians, Macedonians and Macedonian Romani". Collegium antropologicum. 28 (1): 193–8. PMID15636075.
Dubut, Vincent; Chollet, Lionel; Murail, Pascal; Cartault, François; Béraud-Colomb, Eliane; Serre, Myriam; Mogentale-Profizi, Nérina (2003). "MtDNA polymorphisms in five French groups: Importance of regional sampling". European Journal of Human Genetics. 12 (4): 293–300. doi:10.1038/sj.ejhg.5201145. PMID14694359.
Fernandes, Verónica; Alshamali, Farida; Alves, Marco; Costa, Marta D.; Pereira, Joana B.; Silva, Nuno M.; Cherni, Lotfi; Harich, Nourdin; et al. (2012). "The Arabian Cradle: Mitochondrial Relicts of the First Steps along the Southern Route out of Africa". The American Journal of Human Genetics. 90 (2): 347–355. doi:10.1016/j.ajhg.2011.12.010.
Finnila, JS; Finnila, S; Majamaa, K (2001). "Lineage-specific selection in human mtDNA: Lack of polymorphisms in a segment of MTND5 gene in haplogroup J". Molecular Biology and Evolution. 20 (12): 2132–42. doi:10.1093/molbev/msg230. PMID12949126.
Gasparre, G.; Porcelli, A. M.; Bonora, E.; Pennisi, L. F.; Toller, M.; Iommarini, L.; Ghelli, A.; Moretti, M.; et al. (2007). "Disruptive mitochondrial DNA mutations in complex I subunits are markers of oncocytic phenotype in thyroid tumors". Proceedings of the National Academy of Sciences. 104 (21): 9001–9006. doi:10.1073/pnas.0703056104.
Gonder, M. K.; Mortensen, H. M.; Reed, F. A.; De Sousa, A.; Tishkoff, S. A. (2006). "Whole-mtDNA Genome Sequence Analysis of Ancient African Lineages". Molecular Biology and Evolution. 24 (3): 757–68. doi:10.1093/molbev/msl209. PMID17194802.
Hartmann, A; Thieme, M; Nanduri, LK; Stempfl, T; Moehle, C; Kivisild, T; Oefner, PJ (2009). "Validation of microarray-based resequencing of 93 worldwide mitochondrial genomes". Human Mutation. 30 (1): 115–22. doi:10.1002/humu.20816. PMID18623076.
Hofreiter, Linea; Lynnerup, Niels; Siegismund, Hans R.; Kivisild, Toomas; Dissing, Jørgen (2010). Hofreiter, Michael (ed.). "Genetic Diversity among Ancient Nordic Populations". PLoS ONE. 5 (7): e11898. doi:10.1371/journal.pone.0011898. PMC2912848. PMID20689597. The overall occurrence of haplogroups did not deviate from extant Scandinavians, however, haplogroup I was significantly more frequent among the ancient Danes (average 13%) than among extant Danes and Scandinavians (~2.5%) as well as among other ancient population samples reported. Haplogroup I could therefore have been an ancient Southern Scandinavian type "diluted" by later immigration events.{{cite journal}}: CS1 maint: unflagged free DOI (link)
Janssen, GM; Neu, A; 't Hart, LM; Van De Sande, CM; Antonie Maassen, J (2006). "Novel mitochondrial DNA length variants and genetic instability in a family with diabetes and deafness". Experimental and Clinical Endocrinology & Diabetes. 114 (4): 168–74. doi:10.1055/s-2006-924066. PMID16705548.
Keyser, Christine; Bouakaze, Caroline; Crubézy, Eric; Nikolaev, Valery G.; Montagnon, Daniel; Reis, Tatiana; Ludes, Bertrand (2009). "Ancient DNA provides new insights into the history of south Siberian Kurgan people". Human Genetics. 126 (3): 395–410. doi:10.1007/s00439-009-0683-0. PMID19449030.
Knight, A; Underhill, PA; Mortensen, HM; Zhivotovsky, LA; Lin, AA; Henn, BM; Louis, D; Ruhlen, M; Mountain, JL (2003). "African Y chromosome and mtDNA divergence provides insight into the history of click languages". Current Biology. 13 (6): 464–73. doi:10.1016/S0960-9822(03)00130-1. PMID12646128.
Malyarchuk, B. A.; Derenko, M. V. (2001). "Mitochondrial DNA variability in Russians and Ukrainians: Implication to the origin of the Eastern Slavs". Annals of Human Genetics. 65 (Pt 1): 63–78. doi:10.1046/j.1469-1809.2001.6510063.x. PMID11415523.
Malyarchuk, BA; Grzybowski, T; Derenko, MV; Czarny, J; Drobnic, K; Miścicka-Sliwka, D (2003). "Mitochondrial DNA variability in Bosnians and Slovenians". Annals of Human Genetics. 67 (Pt 5): 412–25. doi:10.1046/j.1469-1809.2003.00042.x. PMID12940915.
Malyarchuk, B; Derenko, M; Denisova, G; Kravtsova, O (2010). "Mitogenomic diversity in Tatars from the Volga-Ural region of Russia". Molecular Biology and Evolution. 27 (10): 2220–6. doi:10.1093/molbev/msq065. PMID20457583.
Martinez-Cruz, B.; Harmant, C.; Platt, D. E.; Haak, W.; Manry, J.; Ramos-Luis, E.; Soria-Hernanz, D. F.; Bauduer, F.; et al. (2012). "Evidence of Pre-Roman Tribal Genetic Structure in Basques from Uniparentally Inherited Markers". Molecular Biology and Evolution. 29 (9): 2211–22. doi:10.1093/molbev/mss091. PMID22411853.
Musilová, Eliška; Fernandes, Verónica; Silva, Nuno M.; Soares, Pedro; Alshamali, Farida; Harich, Nourdin; Cherni, Lotfi; Gaaied, Amel Ben Ammar El; et al. (2011). "Population history of the Red Sea-genetic exchanges between the Arabian Peninsula and East Africa signaled in the mitochondrial DNA HV1 haplogroup". American Journal of Physical Anthropology. 145 (4): 592–8. doi:10.1002/ajpa.21522. PMID21660931.
Nikitin, Alexey G.; Kochkin, Igor T.; June, Cynthia M.; Willis, Catherine M.; McBain, Ian; Videiko, Mykhailo Y. (2009). "Mitochondrial DNA Sequence Variation in the Boyko, Hutsul, and Lemko Populations of the Carpathian Highlands". Human Biology. 81 (1): 43–58. doi:10.3378/027.081.0104. PMID19589018.
Non, Amy L.; Al-Meeri, Ali; Raaum, Ryan L.; Sanchez, Luisa F.; Mulligan, Connie J. (2011). "Mitochondrial DNA reveals distinct evolutionary histories for Jewish populations in Yemen and Ethiopia". American Journal of Physical Anthropology. 144 (1): 1–10. doi:10.1002/ajpa.21360. PMID20623605.
Pereira, L; Gonçalves, J; Franco-Duarte, R; Silva, J; Rocha, T; Arnold, C; Richards, M; MacAulay, V (2007). "No evidence for an mtDNA role in sperm motility: Data from complete sequencing of asthenozoospermic males". Molecular Biology and Evolution. 24 (3): 868–74. doi:10.1093/molbev/msm004. PMID17218641.
Pericić, M; Barać Lauc, L; Martinović Klarić, I; Janićijević, B; Rudan, P (2005). "Review of Croatian genetic heritage as revealed by mitochondrial DNA and Y chromosomal lineages". Croatian medical journal. 46 (4): 502–13. PMID16100752.
Poloni, Estella S.; Naciri, Yamama; Bucho, Rute; Niba, Régine; Kervaire, Barbara; Excoffier, Laurent; Langaney, André; Sanchez-Mazas, Alicia (2009). "Genetic Evidence for Complexity in Ethnic Differentiation and History in East Africa". Annals of Human Genetics. 73 (6): 582–600. doi:10.1111/j.1469-1809.2009.00541.x.
Pope, AM; Carr, SM; Smith, KN; Marshall, HD; Marshall, H. D. (2011). "Mitogenomic and microsatellite variation in descendants of the founder population of Newfoundland: High genetic diversity in an historically isolated population". Genome / National Research Council Canada = Genome / Conseil national de recherches Canada. 54 (2): 110–9. doi:10.1139/G10-102. PMID21326367.
Soares, P.; Alshamali, F.; Pereira, J. B.; Fernandes, V.; Silva, N. M.; Afonso, C.; Costa, M. D.; Musilova, E.; et al. (2011). "The Expansion of mtDNA Haplogroup L3 within and out of Africa". Molecular Biology and Evolution. 29 (3): 915–27. doi:10.1093/molbev/msr245. PMID22096215.
Terreros, Maria C; Rowold, Diane J; Mirabal, Sheyla; Herrera, Rene J (2011). "Mitochondrial DNA and Y-chromosomal stratification in Iran: Relationship between Iran and the Arabian Peninsula". Journal of Human Genetics. 56 (3): 235–46. doi:10.1038/jhg.2010.174. PMID21326310.
Tishkoff, S. A.; Gonder, M. K.; Henn, B. M.; Mortensen, H.; Knight, A.; Gignoux, C.; Fernandopulle, N.; Lema, G.; et al. (2007). "History of Click-Speaking Populations of Africa Inferred from mtDNA and Y Chromosome Genetic Variation". Molecular Biology and Evolution. 24 (10): 2180–95. doi:10.1093/molbev/msm155. PMID17656633.
Topf, A. L.; Gilbert, MT; Dumbacher, JP; Hoelzel, AR (2005). "Tracing the Phylogeography of Human Populations in Britain Based on 4th-11th Century mtDNA Genotypes". Molecular Biology and Evolution. 23 (1): 152–61. doi:10.1093/molbev/msj013. PMID16151183.
van Oven, Mannis; Kayser, Manfred (2009). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation. 30 (2): E386–94. doi:10.1002/humu.20921. PMID18853457.
Černý, Viktor; Pereira, Luísa; Kujanová, Martina; VašÍková, Alžběta; Hájek, Martin; Morris, Miranda; Mulligan, Connie J. (2009). "Out of Arabia-The settlement of Island Soqotra as revealed by mitochondrial and Y chromosome genetic diversity". American Journal of Physical Anthropology. 138 (4): 439–47. doi:10.1002/ajpa.20960. PMID19012329.
Fellner, Robert O (1995). Cultural change and the epipalaeolithic of Palestine. Tempus Reparatum. ISBN9780860547754.
